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Diagnostic criteria for CDKL5 developmental and epileptic encephalopathy (CDKL5-DEE)

Diagnostic criteria for CDKL5 developmental and epileptic encephalopathy (CDKL5-DEE)
  Mandatory Alerts Exclusionary
Seizures
  • Seizures, which may include tonic seizures, epileptic spasms, generalized tonic-clonic seizures, and/or focal seizures
  • Hyperkinetic-tonic-spasms sequence seizures are characteristic but not seen in all cases
  • Absence of epileptic spasms in the first year of life
  
EEG  
  • Normal EEG background without interictal discharges after 4 months of age
  
Age at onset  
  • Onset of epilepsy >3 months
  
Development at onset  
  • Normal development prior to seizure onset
  
Neurologic examination  
  • Normal tone
  • Lack of encephalopathy
  
Other testing (eg, genetics)
  • Pathogenic variant in the CDKL5 gene (X-linked but females outnumber males by 4:1)
    
Course of illness
  • Profound to severe intellectual disability
  • Drug-resistant epilepsy
    
Is MRI or ictal EEG required for diagnosis?
  • An MRI is not required for diagnosis but is strongly recommended to exclude other causes
  • An ictal EEG is not required for diagnosis
Syndrome without laboratory confirmation: In resource-limited regions, CDKL5-DEE cannot be diagnosed without confirmatory genetic testing
EEG: electroencephalography; MRI: magnetic resonance imaging.
From: Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 2022; 63:1349. Copyright © 2022 The Authors. Available at: https://onlinelibrary.wiley.com/doi/10.1111/epi.17239 (Accessed on November 14, 2022). Reproduced under the terms of the Creative Commons Attribution License 4.0.
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